| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000337019 |
| Start |
163089273:163089273(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749211635
|
| CDS Mutation |
c.478C>T |
| AA Mutation |
p.Arg160Ter(p.R160*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337019 |
| Start |
162814191:162814192(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.203dupA |
| AA Mutation |
p.Pro69AlafsTer9(p.P69Afs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PACRG
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000337019 |
| Start |
163089371:163089371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.576A>C |
| AA Mutation |
p.Gln192His(p.Q192H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000337019 |
| Start |
163314834:163314834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs191922264
|
| CDS Mutation |
c.738C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000337019 |
| Start |
162728246:162728247(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.14_15delAA |
| AA Mutation |
p.Lys5ArgfsTer35(p.K5Rfs*35) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|